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Cleft lip-retinopathy syndrome

MedGen UID:
419494
•Concept ID:
C2931789
•
Disease or Syndrome
Synonyms: Ausems Wittebol-Post Hennekam syndrome; Cleft lip with progressive retinopathy
SNOMED CT: Cleft lip retinopathy syndrome (732247000); Ausems Wittebol Post Hennekam syndrome (732247000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016051
Orphanet: ORPHA1995

Definition

An exceedingly rare association with characteristics of cleft lip and progressive retinopathy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft lip-retinopathy syndrome
Follow this link to review classifications for Cleft lip-retinopathy syndrome in Orphanet.

Professional guidelines

PubMed

Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Orthodontic treatment for prominent upper front teeth (Class II malocclusion) in children and adolescents.
Batista KB, Thiruvenkatachari B, Harrison JE, O'Brien KD
Cochrane Database Syst Rev 2018 Mar 13;3(3):CD003452. doi: 10.1002/14651858.CD003452.pub4. PMID: 29534303Free PMC Article
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Relationship between COVID-19 and orofacial clefts.
Molnárová A, Fekiačová D, Záhumenský J, Rosoľanková M, Ujházy E, Dubovický M, Palenčár D
Gen Physiol Biophys 2024 Jul;43(4):313-319. doi: 10.4149/gpb_2024012. PMID: 38953573
Environmental factors in non-syndromic orofacial clefts: A review based on meta-analyses results.
Suazo J
Oral Dis 2022 Jan;28(1):3-8. Epub 2021 May 28 doi: 10.1111/odi.13880. PMID: 33872445
Cleft lip and palate: understanding genetic and environmental influences.
Dixon MJ, Marazita ML, Beaty TH, Murray JC
Nat Rev Genet 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933. PMID: 21331089Free PMC Article
The genetics and epigenetics of orofacial clefts.
Spritz RA
Curr Opin Pediatr 2001 Dec;13(6):556-60. doi: 10.1097/00008480-200112000-00011. PMID: 11753106
Trisomy 22.
Zellweger H, Ionasescu V, Simpson J
J Genet Hum 1975 Mar;23(1):65-75. PMID: 1165480

Diagnosis

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.
Liang J, Von den Hoff J, Lange J, Ren Y, Bian Z, Carels CE
Eur J Hum Genet 2016 Dec;24(12):1663-1670. Epub 2016 Jul 6 doi: 10.1038/ejhg.2016.78. PMID: 27381090Free PMC Article
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828
Lobster claw deformity.
Agrawal A, Agrawal R, Singh R, Agrawal R, Agrawal S
Indian J Dent Res 2014 Mar-Apr;25(2):243-7. doi: 10.4103/0970-9290.135935. PMID: 24992861
Atelosteogenesis type 2.
Newbury-Ecob R
J Med Genet 1998 Jan;35(1):49-53. doi: 10.1136/jmg.35.1.49. PMID: 9475095Free PMC Article
Morton's metatarsalgia.
Morris MA
Clin Orthop Relat Res 1977;(127):203-7. PMID: 912981

Therapy

Robin Sequence: Neonatal Mandibular Distraction.
Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891
The anaesthetist, opioid analgesic drugs, and serotonin toxicity: a mechanistic and clinical review.
Baldo BA, Rose MA
Br J Anaesth 2020 Jan;124(1):44-62. Epub 2019 Oct 22 doi: 10.1016/j.bja.2019.08.010. PMID: 31653394
Cleft and Craniofacial Surgery.
Steinberg B, Caccamese J Jr, Costello BJ, Woerner J
J Oral Maxillofac Surg 2017 Aug;75(8S):e126-e150. doi: 10.1016/j.joms.2017.04.031. PMID: 28728728
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Bullous solar elastosis.
Heras JA, Jiménez F, Soguero ML, Arjona C, Plaza JA, Martínez P, Requena L
Clin Exp Dermatol 2007 May;32(3):272-4. Epub 2007 Jan 23 doi: 10.1111/j.1365-2230.2006.02333.x. PMID: 17250755

Prognosis

Relationship between COVID-19 and orofacial clefts.
Molnárová A, Fekiačová D, Záhumenský J, Rosoľanková M, Ujházy E, Dubovický M, Palenčár D
Gen Physiol Biophys 2024 Jul;43(4):313-319. doi: 10.4149/gpb_2024012. PMID: 38953573
Yunis-Varon Syndrome.
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
The embryology, classification, epidemiology, and genetics of facial clefting.
Coleman JR Jr, Sykes JM
Facial Plast Surg Clin North Am 2001 Feb;9(1):1-13. PMID: 11464997

Clinical prediction guides

Environmental factors in non-syndromic orofacial clefts: A review based on meta-analyses results.
Suazo J
Oral Dis 2022 Jan;28(1):3-8. Epub 2021 May 28 doi: 10.1111/odi.13880. PMID: 33872445
Nucleic acid methylation and orofacial morphogenesis.
Seelan RS, Pisano M, Greene RM
Birth Defects Res 2019 Dec 1;111(20):1593-1610. Epub 2019 Aug 5 doi: 10.1002/bdr2.1564. PMID: 31385455
Treatment of midfacial hypoplasia in syndromic and cleft lip and palate patients by means of a rigid external distractor (RED).
Sant'Anna EF, Cury-Saramago Ade A, Lau GW, Polley JW, Figueroa ÁA
Dental Press J Orthod 2013 Jul-Aug;18(4):134-43. doi: 10.1590/s2176-94512013000400005. PMID: 24262427
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

Recent systematic reviews

Craniofacial characteristics in Crouzon's syndrome: A systematic review and meta-analysis.
Alam MK, Alfawzan AA, Abutayyem H, Kanwal B, Alswairki HJ, Verma S, Ganji KK, Munisekhar MS, Siddiqui AA, Fahim A
Sci Prog 2023 Jan-Mar;106(1):368504231156297. doi: 10.1177/00368504231156297. PMID: 36803068Free PMC Article
Oral Manifestations of Systemic Lupus Erythematosus: A Systematic Review.
García-Ríos P, Pecci-Lloret MP, Oñate-Sánchez RE
Int J Environ Res Public Health 2022 Sep 21;19(19) doi: 10.3390/ijerph191911910. PMID: 36231212Free PMC Article
Orthodontic treatment for prominent upper front teeth (Class II malocclusion) in children and adolescents.
Batista KB, Thiruvenkatachari B, Harrison JE, O'Brien KD
Cochrane Database Syst Rev 2018 Mar 13;3(3):CD003452. doi: 10.1002/14651858.CD003452.pub4. PMID: 29534303Free PMC Article
Feeding methods for children with cleft lip and/or palate: a systematic review.
Duarte GA, Ramos RB, Cardoso MC
Braz J Otorhinolaryngol 2016 Sep-Oct;82(5):602-9. Epub 2016 Mar 2 doi: 10.1016/j.bjorl.2015.10.020. PMID: 26997574Free PMC Article
Non-speech oral motor treatment for children with developmental speech sound disorders.
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article

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